Journal article
The Light Skin Allele of SLC24A5 in South Asians and Europeans Shares Identity by Descent
C Basu Mallick, FM Iliescu, M Möls, S Hill, R Tamang, G Chaubey, R Goto, SYW Ho, I Gallego Romero, F Crivellaro, G Hudjashov, N Rai, M Metspalu, CGN Mascie-Taylor, R Pitchappan, L Singh, M Mirazon-Lahr, K Thangaraj, R Villems, T Kivisild
Plos Genetics | PUBLIC LIBRARY SCIENCE | Published : 2013
Abstract
Skin pigmentation is one of the most variable phenotypic traits in humans. A non-synonymous substitution (rs1426654) in the third exon of SLC24A5 accounts for lighter skin in Europeans but not in East Asians. A previous genome-wide association study carried out in a heterogeneous sample of UK immigrants of South Asian descent suggested that this gene also contributes significantly to skin pigmentation variation among South Asians. In the present study, we have quantitatively assessed skin pigmentation for a largely homogeneous cohort of 1228 individuals from the Southern region of the Indian subcontinent. Our data confirm significant association of rs1426654 SNP with skin pigmentation, expla..
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Awarded by European Commission
Funding Acknowledgements
This study was mainly supported by Tartu University grant (PBGMR06901) to TK and European Union European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre and University of Tartu to RV, CBM, MMe, GH and GC. Other supporting funding sources were ERC Starting Investigator grant (FP7 - 261213) to TK; Estonian Basic Research grant SF0270177As08 to RV; European Commission grant (ECOGENE 205419) to MMe, GH and RV; Estonian Science Foundation grant (8973) to MMe and UK-India Education Research Initiative (RG47772) grant to MML, KT, TK, FMI, IGR and FC. SYWH was supported by the Australian Research Council. LS and KT were supported by the Council of Scientific and Industrial Research, Government of India. FMI was supported by a studentship from the Darwin Trust of Edinburgh. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.